Retinal dystrophies are a broad group of diseases associated with abnormal retinal cell function. They are hereditary. The most common retinal muscular dystrophy is retinitis pigmentosa (Latin: Retinitis pigmentosa, RP) . In this type of dystrophy, photoreceptor cells gradually disappear. The inheritance of this disease can be different: autosomal dominant (30-40%), autosomal recessive (50-60%) or X-linked.(5-15%). Autosomal dominant forms are usually milder, slow in progression, and retain good eyesight until the fifth or sixth decade of life. The X-linked form is the most unfavorable: central vision is usually lost in the third decade. Rare cases where the disease is not transmitted in the family are also common.
The first symptoms of retinitis pigmentosa usually appear in youth. The onset is painless, the symptoms appear in both eyes and worsen over time. Patients gradually lose their peripheral vision. Initially, an annular scotoma appears in the field of vision, and the progression of the disease leads to the so-called "Tunnel vision". In addition, there are difficulties with vision in poor lighting or at night, as well as problems adapting to the dark. Central vision usually does not change at first, but it worsens over time.
Retinitis pigmentosa can be accompanied by the following eye problems:
myopia,
cystic macular edema,
cataracts,
open-angle glaucoma (3% of patients),
keratoconus,
changes in the vitreous body (most often posterior vitreous detachment).
What should I do when symptoms appear?
If symptoms appear, consult an ophthalmologist to rule out other retinal diseases and determine the stage of the disease.
How does the doctor make the diagnosis?
An experienced doctor can make a diagnosis after examining the fundus, which has a characteristic appearance (pigmented changes, narrow blood vessels, paleness of the optic nerve), and after changes in the study of the visual field. The most important and definitively confirming diagnostic test is an electroretinogram. This test provides an objective assessment of how rods and cones function on the retina. The test result registers the action potential created by retinal photoreceptors in response to visual stimuli. In retinitis pigmentosa, there is usually a significant decrease in signals from both rods and cones), although loss of stamens usually prevails.
Fluorescence angiography can help in making a diagnosis. This examination reveals the presence of diffuse defects in the retinal pigment epithelium secondary to the loss of photoreceptors, and additionally differentiates this disease from choroidal dystrophies. tsescort.org/trans/united-states/